ClinVar Miner

List of variants reported as pathogenic for Lafora disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala) rs28940576 0.00009
NM_198586.3(NHLRC1):c.468del (p.Gly158fs) rs757954108 0.00006
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys) rs137852915 0.00001
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916 0.00001
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793 0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser) rs28940575 0.00001
NC_000006.11:g.(?_18121650)_(18149358_?)del
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs) rs1204045237
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter) rs796052424
NM_005670.4(EPM2A):c.322del (p.Arg108fs) rs2128614455
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter) rs587776553
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) rs104893955
NM_005670.4(EPM2A):c.953dup (p.Gln319fs) rs587776554
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter) rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter) rs1783750860
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs) rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter) rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs) rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn) rs121917876
NM_198586.3(NHLRC1):c.612del (p.Phe204fs) rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs) rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter) rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter) rs121917875
NM_198586.3(NHLRC1):c.799del (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs) rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer) rs1193841505
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala) rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs) rs587776543

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